Variant report

Variant	rs10496194
Chromosome Location	chr2:74215977-74215978
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74075685..74077271-chr2:74214130..74216344,2	K562	blood:
2	chr2:74215681..74218530-chr2:74336371..74337878,2	MCF-7	breast:
3	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
4	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
5	chr2:74214395..74216353-chr2:74293422..74296329,2	MCF-7	breast:
6	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166873	0.93[AMR][1000 genomes]
rs10197238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201998	0.83[EUR][1000 genomes]
rs10207365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207954	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903339	0.83[EUR][1000 genomes]
rs12328448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421442	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4852999	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714060	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74212800-74216000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr2:74213000-74216000	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr2:74213000-74216000	Flanking Active TSS	Hela-S3	cervix
4	chr2:74213000-74216400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:74213000-74216400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr2:74213200-74216000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:74213200-74216400	Transcr. at gene 5' and 3'	NHEK	skin
8	chr2:74213200-74216600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:74213200-74216600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:74213200-74217200	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr2:74213200-74218000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
12	chr2:74213400-74216000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
13	chr2:74213400-74216000	Transcr. at gene 5' and 3'	K562	blood
14	chr2:74213400-74216400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:74213400-74216800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:74213400-74216800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:74213400-74216800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:74213400-74220400	Weak transcription	HSMMtube	muscle
19	chr2:74213600-74216000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:74214400-74216000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:74214400-74216800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:74214800-74216000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:74214800-74216000	Enhancers	NH-A	brain
24	chr2:74214800-74217000	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr2:74215000-74216000	Enhancers	Liver	Liver
26	chr2:74215000-74216000	Flanking Active TSS	Fetal Brain Female	brain
27	chr2:74215000-74216000	Enhancers	Small Intestine	intestine
28	chr2:74215000-74216800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:74215000-74216800	Enhancers	Left Ventricle	heart
30	chr2:74215000-74216800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
31	chr2:74215000-74217000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:74215200-74216000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:74215200-74216000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:74215200-74216000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr2:74215200-74216000	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr2:74215200-74216200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:74215200-74216400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:74215200-74216400	Enhancers	Fetal Heart	heart
39	chr2:74215200-74216600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:74215200-74216600	Enhancers	Pancreas	Pancrea
41	chr2:74215200-74216800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr2:74215200-74217400	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr2:74215200-74217400	Enhancers	Right Ventricle	heart
44	chr2:74215200-74217800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:74215400-74216000	Transcr. at gene 5' and 3'	HepG2	liver
46	chr2:74215400-74216200	Enhancers	Lung	lung
47	chr2:74215400-74216400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:74215400-74216400	Enhancers	Fetal Lung	lung
49	chr2:74215400-74216600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:74215400-74216600	Genic enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links